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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
UNIQUE (Without Case Data) :
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 5 unique variants retrieved

  1. «
  2. 1
  3. »
  c.676C>G
p.(Arg226Gly) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
676
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
6
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1215
<1
90
Severe
II
Spain
-
Solera et al (1991)
1216
<1
64
Severe
II
-
Aguilar-Martinez et al (1994B)
1217
12.2
-
Mild
-
Turkey
-
Onay et al (2003)
1218
-
-
-
Turkey
-
Onay et al (2003)
1219
<1
85
Severe
II
France
Also has p.Phe224Leu polymorphism
Ghanem et al (1993)
3586
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
  c.676C>T
p.(Arg226Trp) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
676
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
43
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1220
<1
-
Severe
-
Turkey
-
Onay et al (2003)
1221
<1
130
Severe
II
Netherlands
-
Bertina et al (1990)
1222
<1
69
Severe
II
Germany
-
Ludwig et al (1992A)
1223
<1
-
Severe
-
United States
-
Demers et al (1990)
1224
<1
74
Severe
II
United States
-
Driscoll et al (1989)
1225
<1
95
Severe
II
United States
-
Driscoll et al (1989)
1226
<1
120
Severe
II
Japan
-
Hamaguchi et al (1991)
1227
<1
-
Severe
-
France
-
Ghanem et al (1993)
1228
<1
50
Severe
II
United States
-
Thompson and Chen (1992)
1229
<1
110
Severe
II
United States
-
Thompson and Chen (1992)
1230
<1
45
Severe
II
United States
-
Ketterling et al (1993A)
1231
1.3
-
Moderate
-
South Korea
-
Kwon et al (2008)
1232
2
-
Moderate
-
France
-
Tartary et al (1993)
1233
<1
-
Severe
-
Denmark
-
Nielsen et al (1995)
1234
-
-
-
Denmark
-
Nielsen et al (1995)
1235
0.3
-
Severe
-
Italy
-
Belvini et al (2005)
1236
<1
-
Severe
-
-
Centre B18 (unpublished)
1237
-
-
Severe
-
United States
-
Bottema et al (1993)
1238
5
-
Moderate
-
United Kingdom
-
Saad et al (1994)
1239
<1
-
Severe
-
-
Centre B30 (unpublished)
3734
United States
Gostout et al (1993)
1241
<1
-
Severe
-
United States
-
Driscoll et al (1996)
1242
<1
77
Severe
II
Germany
-
Wulff et al (1999)
1243
<1
-
Severe
-
Germany
-
Wulff et al (2001)
1244
-
-
-
Pakistan
-
Nawaz et al (2008)
1247
1
-
Moderate
-
-
Centre B35 (unpublished)
1248
<1
59
Severe
II
-
Centre B14 (unpublished)
1249
<1
-
Severe
-
France
-
Costa et al (2000)
1250
<1
-
Severe
-
-
Centre B24 (unpublished)
1251
-
-
-
China
-
Liu et al (2000)
1252
-
-
Severe
-
China
-
Liu et al (2000)
1253
<1
-
Severe
-
-
Centre B21 (unpublished)
1254
<1
-
Severe
-
-
Centre B39 (unpublished)
1255
-
-
-
-
Centre B39 (unpublished)
1256
<1
-
Severe
-
-
Centre B39 (unpublished)
1259
0
-
Severe
-
-
Centre B36 (unpublished)
1260
<1
-
Severe
-
Tunisia
-
Elmahmoudi et al (2011)
1261
<1
100
Severe
II
Japan
-
Suehiro et al (1989)
3462
<1
-
Severe
-
NO
India
-
Jayandharan et al (2009)
3585
-
-
Moderate
-
NO
China
-
Yu et al (2012)
4068
<1
Severe
NO
United States
Johnsen et al (2017)
4069
<1
Severe
NO
United States
Johnsen et al (2017)
4070
<1
Severe
NO
United States
Johnsen et al (2017)
  c.677G>A
p.(Arg226Gln) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
677
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
60
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1262
<1
120
Severe
II
France
-
Ghanem et al (1993)
1263
<1
112
Severe
II
Netherlands
-
Bertina et al (1990)
1264
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
1265
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
1266
3
100
Moderate
II
United States
-
Bottema et al (1990C)
1267
<1
100
Severe
II
United States
-
Thompson et al (1992A)
1268
2
120
Moderate
II
Canada
-
Poon et al (1993)
1269
<1
5
Severe
II
France
-
Tartary et al (1993)
1270
<1
-
Severe
-
Denmark
-
Nielsen et al (1995)
1271
<1
-
Familial
Severe
-
India
-
Jayandharan et al (2005)
1272
<1
-
Sporadic
Severe
-
India
-
Jayandharan et al (2005)
1273
<1
-
Severe
-
Denmark
-
Nielsen et al (1995)
1274
-
-
-
Turkey
-
Onay et al (2003)
1275
<1
-
Severe
-
Italy
-
Belvini et al (2005)
1276
<1
-
Severe
-
Denmark
-
Nielsen et al (1995)
1277
-
-
-
Germany
-
Wulff et al (1995)
1278
-
-
-
Germany
-
Wulff et al (1995)
1279
<1
-
Severe
-
-
Centre B30 (unpublished)
1280
<1
-
Severe
-
Germany
-
Wulff et al (2001)
1281
-
-
-
-
Centre B30 (unpublished)
1282
<1
-
Severe
-
Brazil
-
Meireles et al (2017)
1283
<1
-
Severe
-
-
Centre B39 (unpublished)
1284
-
-
-
Germany
-
Wulff et al (2001)
1285
<1
129
Severe
II
-
Centre B14 (unpublished)
1286
<1
-
Severe
-
Germany
-
Ivaskevicius et al (2001)
1287
<1
-
Severe
-
Spain
-
Montejo et al (1999)
1288
<1
100
Severe
II
-
Centre B38 (unpublished)
1289
-
-
-
Germany
-
Wulff et al (2001)
1290
5
-
Moderate
-
Mexico
-
Jaloma-Cruz et al (2000)
1291
<1
-
Severe
-
Mexico
-
Jaloma-Cruz et al (2000)
1292
-
-
Severe
-
China
-
Liu et al (2000)
1293
-
-
Severe
-
United States
-
Li et al (2000)
1294
-
-
-
-
Centre B39 (unpublished)
1295
-
-
-
Germany
-
Wulff and Herrmann (1999)
1296
<1
-
Severe
-
-
Centre B36 (unpublished)
1297
<1
-
Severe
-
-
Centre B36 (unpublished)
1299
1
-
Moderate
-
-
Centre B36 (unpublished)
1300
<1
-
Severe
-
India
-
Mahajan et al (2007)
1301
-
-
-
-
Centre B39 (unpublished)
1302
-
-
-
-
Centre B39 (unpublished)
1303
<1
-
Severe
-
-
Centre B39 (unpublished)
1305
2
-
Moderate
-
-
Centre B13 (unpublished)
1306
<1
-
Severe
-
-
Centre B25 (unpublished)
1307
<1
120
Severe
II
United States
-
Huang et al (1989)
3494
<1
-
Sporadic
Severe
-
NO
Argentina
-
Radic et al (2013)
3587
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
3588
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
3589
-
-
Moderate
-
NO
China
-
Yu et al (2012)
3671
-
-
Mild
-
NO
United States
-
Miller et al (2012)
3672
-
-
Severe
-
NO
United States
-
Miller et al (2012)
4071
5
Moderate
NO
United States
Johnsen et al (2017)
4072
<1
Severe
NO
United States
Johnsen et al (2017)
4073
<1
Severe
NO
United States
Johnsen et al (2017)
4074
<1
Severe
NO
United States
Johnsen et al (2017)
4075
<1
Severe
NO
United States
Johnsen et al (2017)
4076
<1
Severe
NO
United States
Johnsen et al (2017)
4077
<1
Severe
NO
United States
Johnsen et al (2017)
4078
<1
Severe
United States
Johnsen et al (2017)
4079
<1
Severe
NO
United States
Johnsen et al (2017)
4080
<1
Severe
NO
United States
Johnsen et al (2017)
  c.677G>T
p.(Arg226Leu) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
677
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1310
1
-
Moderate
-
New Zealand
-
Van de Water et al (1996)
1311
<1
73
Severe
II
Taiwan
-
Lin and Shen (1993)
4081
<1
Severe
NO
United States
Johnsen et al (2017)
  c.677G>C
p.(Arg226Pro) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
677
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1308
-
-
-
Germany
-
Wulff and Herrmann (1999)
1309
<1
-
Severe
-
-
Centre B28 (unpublished)
3812
<1
90
Severe
II
Germany
-
Wulff et al (1999)
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